poster listing even numbered posters will be attended by

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Poster Listing Even numbered posters will be attended by their authors on Friday, November 8, 2:45pm-3:45pm. Odd numbered posters will be attended by their authors on Saturday, November 9, 9:45am-10:45am. GENETICS G001. Utilization of Rapid Whole Genomic Sequencing (rWGS) Demonstrates Significant Improvement in Clinical Utility and Cost Effectiveness in Neonatal and Pediatric Hospital Intensive Care Units S. Nahas G002. Relative Information Content of Comprehensive High-Throughput Single Nucleotide Analyses in PTEN A. Moon G003. Characterization of Reference Materials for Genetic Testing of Rare CYP2D6 Alleles: A GeT- RM Collaborative Project A. Gaedigk G004. Correlational Study on Altered Epicardial Adipose Tissue as a Stratification Risk Factor for Valve Disease Progression through IL-13 Signaling M.M. Corsi Romanelli G005. Prenatal Testing for Hereditary Cancer Risk Variants: Where Are We Now? L.S. Rosenblum G006. An Unusual Cause for Coffin-Lowry Syndrome in Three Siblings with a Novel Microduplication in the RPS6KA3 Gene Affecting mRNA Expression Levels: Implication for Diagnosis F. Vetrini G007. Building an Integrated Clinical Noninvasive Prenatal Screening Program in a Large Reference Laboratory Setting: Lessons Learned Using a Single Nucleotide Polymorphism-Based Method Y. Ji G008. Germline RAD51B Loss-of-Function Variants Confer Susceptibility to Hereditary Breast and Ovarian Cancers and Result in Homologous Recombination Deficient Tumors D. Mandelker G009. Use of Synthetic Internal Standards to Measure Very Low Frequency TP53, PIK3CA, and BRAF Somatic Mutations in Normal Airway Epithelial Field of Injury Associated with Lung Cancer Risk J. Willey G010. A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway- Focused Functional Assay S.E. Brnich G011. Clinical and Molecular Profile of IDH1-Mutant Cutaneous Melanoma J.S. Ross

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Page 1: Poster Listing Even numbered posters will be attended by

Poster Listing Even numbered posters will be attended by their authors on Friday, November 8, 2:45pm-3:45pm. Odd numbered posters will be attended by their authors on Saturday, November 9, 9:45am-10:45am. GENETICS G001. Utilization of Rapid Whole Genomic Sequencing (rWGS) Demonstrates Significant Improvement in Clinical Utility and Cost Effectiveness in Neonatal and Pediatric Hospital Intensive Care Units S. Nahas G002. Relative Information Content of Comprehensive High-Throughput Single Nucleotide Analyses in PTEN A. Moon G003. Characterization of Reference Materials for Genetic Testing of Rare CYP2D6 Alleles: A GeT-RM Collaborative Project A. Gaedigk G004. Correlational Study on Altered Epicardial Adipose Tissue as a Stratification Risk Factor for Valve Disease Progression through IL-13 Signaling M.M. Corsi Romanelli G005. Prenatal Testing for Hereditary Cancer Risk Variants: Where Are We Now? L.S. Rosenblum G006. An Unusual Cause for Coffin-Lowry Syndrome in Three Siblings with a Novel Microduplication in the RPS6KA3 Gene Affecting mRNA Expression Levels: Implication for Diagnosis F. Vetrini G007. Building an Integrated Clinical Noninvasive Prenatal Screening Program in a Large Reference Laboratory Setting: Lessons Learned Using a Single Nucleotide Polymorphism-Based Method Y. Ji G008. Germline RAD51B Loss-of-Function Variants Confer Susceptibility to Hereditary Breast and Ovarian Cancers and Result in Homologous Recombination Deficient Tumors D. Mandelker G009. Use of Synthetic Internal Standards to Measure Very Low Frequency TP53, PIK3CA, and BRAF Somatic Mutations in Normal Airway Epithelial Field of Injury Associated with Lung Cancer Risk J. Willey G010. A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay S.E. Brnich G011. Clinical and Molecular Profile of IDH1-Mutant Cutaneous Melanoma J.S. Ross

Page 2: Poster Listing Even numbered posters will be attended by

G012. Performance of AmplideX SMN1/2 Assay from Asuragen L. Mazur G013. Mitochondrial Genome Sequencing Uncovers a Novel Alteration in MT-TL2 in a Patient with MELAS-Like Phenotype J.L. Lopes G014. A Framework of Critical Considerations in Interpretation of NGS-Based Tests for Germline Disorders: On Behalf of CLSI Document Development Committee (DDC) on Nucleic Acid Sequencing (MM09) J. Buchan G015. Accurate and Efficient Chimerism Determination Using a SNP-Based Chimeric ID Panel K.E. Jackson G016. North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) Detects Molecular Etiologies Underlying Inborn Errors of Metabolism and Hearing Loss T.S. Roman G017. Clinical Significance of Reinterpreting Previously Reported Immunologic Disease Genomic Tests J.A. SoRelle G018. Alpha-1 Antitrypsin Deficiency Genotype-Phenotype Correlations: Clinical Experience Testing S, Z, F, and I Alleles K.S. Dhillon G019. The VeriDose CYP2D6 CNV Panel: A One-Well Solution for Copy Number and Hybrid Allele Detection of CYP2D6 R.E. Everts G020. The VeriDose Core Panel: Strong Performance When Analyzing Challenging Pharmacogenetic Samples A. Lois G021. Target Selector DNA EGFR Kit for Tissue Demonstrates High Sensitivity without the Need for Macro-dissection V. Alexiadis G022. A Multiplex PCR/CE CFTR Assay Resolves Zygosity of the 23 ACMG/ACOG-Recommended CFTR Variants and Sizes Poly-T and TG Repeats in a Single Tube P. Rao G023. Integrated Germline and Somatic Analysis Identifies Actionable Cancer Predisposing Germline Mutations in 9,734 Patients with Advanced Cancers G. Jayakumaran G024. Assessment of Long IVT mRNA Fragments with the Fragment Analyzer System C. Pocernich G025. Validation and Diagnostic Utility of Targeted Next-Generation Sequencing Panel in Korean Patients with Retinitis Pigmentosa C. Seol

Page 3: Poster Listing Even numbered posters will be attended by

G026. CHLA Ocular Disease Focused Exome: Precision Molecular Diagnosis Enabling Precision Therapies for Retinal Dystrophies R.J. Schmidt G027. Genetic Characterization of Spinocerebellar Ataxia 12 Patients in an Indian Cohort: KDAH Experience J.C. Vyas G028. Clinical Exome Sequencing, an Effective Tool for Detecting Causative Mutations for Rare Diseases: Retrospective Study of the Past Seven Years C.C. Eno G029. Therapy-Related Clonal Hematopoiesis and the Risk of Secondary Hematological Malignancies in Patients with Prior Radiation Therapy H. Jin G030. Findings from the Global External Quality Assessment of Lung Cancer Liquid Biopsy Testing J. Fairley G031. Implementing Physician-Mediated Consumer-Driven Clinical Elective Genome Sequencing: One Laboratory’s Experience M. Leduc G032. Chromosomal Microarray Complements Traditional Cytogenetics in Acute Myeloid Leukemia J. Giffin G033. Expansion of Clinical Carrier Screening in Spinal Muscular Atrophy through DNA Fragment Analysis by Capillary Electrophoresis S. Turner G034. HLA Diversity Score as a Predictor of Checkpoint Blockage Immunotherapy Survival B. Zhang G035. Development and Validation of an NGS Assay to Detect UGT1A1 and ABCG2 Polymorphisms Associated with Drug Metabolism M. Fitarelli-Kiehl G036. Significance Associated with Phenotype (SAP) Score: A Method for Ranking Genes and Genomic Regions Based on Sample Phenotype J. Ji G037. ddPCR-Based Differentiation between Constitutional and Acquired inv(11)(q21q23) Rearrangements in Acute Leukemia C.J. Zepeda Mendoza G038. Identity Testing of Paired Neoplastic and Non-neoplastic Samples Using a Custom Single-Nucleotide- Polymorphism-Based Next-Generation Sequencing Assay K.J. Jensen G039. Analytical Validation of a Circulating Tumor DNA (ctDNA) Genomic Profiling Assay for the Detection of Somatic Sequencing and Structural Variants R. Snyder

Page 4: Poster Listing Even numbered posters will be attended by

G040. Clinical Relevance of Liquid Biopsies in Metastatic Adenocarcinoma of Non-small Cell Lung Cancer (NSCLC) A. Chougule G041. Analysis of Next-Generation Sequencing Data for Disorders of Somatic Mosaicism Reveals the Importance of Reanalysis in the Clinical Setting M.J. Evenson G042. Characterization of Complex Mixed Lineage Leukemia 1 (MLL1) Gene Rearrangements in Leukemia G. Velagaleti G043. Likely Pathogenic or Likely Benign: Analysis of Deletions of the MBD5 Gene J. Schleede G044. A Rapid Diagnostic and Screening System for Spinal Muscular Atrophy That Reports Copy Number Changes, Single Nucleotide Variants, and Small Indels H. Zhu G045. Genomic Characterization of Pediatric Acute Megakaryoblastic Leukemia and the Clinical Impact E. Lalonde G046. Expanded Tumor Spectrum in Individuals with Large Germline Deletions Including CDKN2A and Additional Genes Including the Interferon Gene Cluster P.R. Blackburn G047. Standardization, Optimization, and Quality Management of FFPE Solid Tumor Diagnostic Samples in Next-Generation Sequencing: An Experience in Our Tata Memorial Centre India A. Chougule G048. RapiDxFire Thermostable Reverse Transcriptase: A Novel Reverse Transcriptase for Improved High-Temperature RNA Synthesis and Extended Stability J. Kramer G049. Using Isotachophoresis as a Novel Method to Improve the Yield and Quality of Nucleic Acid Purification from FFPE Samples L.A. Marshall G050. Challenges of Interpreting DMD Gene Duplication Variants M.L. Fulmer G051. A Multi-Platform Approach to Friedreich Ataxia Molecular Diagnostics R. Majumdar G052. Feasibility of a Synthetic Dried Blood Spot Mimic for Use as an External Control for Newborn Screening of Genetic Disorders A. Parsons G053. A Multiplexed SNP Panel Using Oligonucleotide Ligation Assays Run on the N-PLEX Platform for the Allelic Assignment of Genetic Risk Factors of Lung Cancer Development S.B. Harkins G054. Incidental Cases of NIPT-Associated Maternal Constitutional Aberrations K.K. Phillips

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G055. Methylation-Based NIPT Test on MALDI -TOF for Down’s Syndrome Screening H.H. Tao HEMATOPATHOLOGY H001. Integrative Genomic Testing Improves Clinical Management of Hematological Neoplasms: A Focus on Structural Variations L. Boiocchi H002. Clinical Validation of an NGS-Based IGHV Somatic Hypermutation Assay C.C. Ho H003. Performance of NGS in Evaluating TP53 Aberrations in Lymphoid Neoplasm A. Alsuwaidan H004. The Result of 122 Consecutive NGS-Based Analysis of T-Lymphoblastic Leukemia/Lymphoma and Early T-cell Precursor Leukemia (ETP) W. Xie H005. Frequency of JAK2 Mutations in Patients with Suspected Myeloproliferative Neoplasms A. Judd H006. WT1 Mutation Is an Independent Poor Prognostic Factor in Intermediate Risk Acute Myeloid Leukemia (AML): A Case of Relapsed AML with Leukostasis N. Hakim H007. Rapid Next-Generation Karyotyping for Clinical Evaluation of Hematologic Malignancies E. J. Duncavage H008. Multidisciplinary Quality Improvement Involving the Molecular Pathology Laboratory Expedites Diagnosis of Acute Promyelocytic Leukemia S.N. Asadbeigi H009. Feasability of an RNAseq Assay for Detection of Translocations and Immunoglobulin Clonality in Aggressive B-Cell Lymphomas X. Wang H010. Evaluation of Intraclonal Heterogeneity in Diffuse Large B-Cell Lymphoma by Next-Generation Sequencing of Immunoglobulin Heavy Chain (IGH) Gene M. Zhu H011. Utility of Next-Generation Sequencing in the Workup and Diagnosis of Patients with Myelodysplastic Syndromes and Unexplained Cytopenias: A Single Institution Experience D. Carr H012. Cytogenetic Analysis of Adult T-Cell Leukemia/Lymphoma in a Caribbean Cohort: Correlation with Next-Generation Sequencing (NGS) Data, Clinical Features and Survival X. Zhang H013. Validation and Implementation of a Comprehensive Genomics Profiling (CGP) Assay for Hematologic Malignancies S. Turner

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H014. Clinically Significant CUX1 Mutations Detected by a Targeted Next-Generation Sequencing Panel Are Common in Myeloid Disorders with a High Number of Co-mutated Genes and Dysplastic Features J.K. Dermawan H015. Mutant-p53 Antibody Stains Cytokeratin-Negative CTCs Enriched and Detected with a “Pan-CTC” Antibody Cocktail S.H. Hsiao H016. Non-coding NOTCH1 Mutations in Chronic Lymphocytic Leukemia F. Jelloul H017. Development of Full-Process Quality-Control Material BCR-ABL1 Panel Traceable to WHO International Standard L. Liu H018. Evaluation of Efficiency-Driven Adjustments to the Abbott RealTime IDH1 and IDH2 Assays A.M. Carlin H019. GATA2 Variants Detected by Next-Generation Sequencing with Myeloid Comprehensive Panel: Pathogenic or Benign Polymorphism? D. Morlote H020. IDH1 p.S280F Mutation Is Potentially a Novel Mechanism of Resistance to Ivosidenib Therapy in an IDH1-Positive Acute Myeloid Leukemia Z.N. Oltvai H021. IGH Locus Assessment Using Hybrid-Capture: A Proof-of-Concept Study E. Mahe H022. Benchmarking High-Resolution Optical Mapping to FISH, Karyotyping and Chromosomal Microarray T. Mantere H023. A Rapid, Capture-Based Enrichment NGS Panel for Assessing Myeloid Malignancies A. Barry H024. JAK2 Exons 12, 13, 14, and 15 Mutation Analysis L. Cai H025. When Do FISH and Next-Generation Sequencing Add Diagnostic or Prognostic Value in the Initial Marrow Evaluation of MDS? P.C. Tsang H026. Single-Step, Multiplex and Automated Droplet Digital PCR of p190 BCR-ABL1 Fusion Transcript for Minimal Residual Disease Quantification in B Lymphoblastic Leukemia R.J. Martinez H027. Convergence on Genomic Abrogation of the DNA Damage Response Pathway in CLL Is Observed in Patients with Loss of 18p W. Wong H028. CEBPA Mutation Phasing Using Pacific Biosciences Circular Consensus Sequencing L. Cai

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H029. Nanopore "Flongle" Sequencing for Fusion Detection as a Rapid, Single Specimen Clinical Test W. Jeck H030. A Comparative Study of FLT3-ITD Allelic Ratio Evaluation Using Peak Height versus Peak Area Measurements M. Mai H031. Newly Discovered 74-Base Pair Insertion in CALR Exon 9 in a Myeloproliferative Neoplasm Patient P.L. Ollila H032. Exploring Driver Mutations and Tumor Mutational Burden Load in Enteropathy-Associated T-Cell Lymphoma by Next-Generation Exome Sequencing J. Kim H033. Long-Term Monitoring of Hematopathology, Cytogenetic, and Genetic Abnormalities in a Patient with MIRAGE Syndrome S. Rentas H034. Identification of Neoplastic Clonal T-Cell Sequences in Unrelated Healthy Individuals: Limitations of High-Throughput TRG Sequencing for Minimal Residual Disease (MRD) Analysis S. Sen H035. New Subtype of AML with a Very Poor Prognosis C.A. Schandl H036. Comprehensive Genomic Characterization of ASXL1 and SRSF2 Co-mutated Acute Myeloid Leukemia L. Ramkissoon H037. WITHDRAWN H038. Performance Characteristics of the First FDA-Cleared Droplet Digital PCR (ddPCR) IVD Assay, the QXD BCR-ABL %IS Kit on the QXD ddPCR System for Monitoring Chronic Myelogenous Leukemia (CML) N. Sepulveda H039. Measurable Residual Disease Monitoring for Patients with Acute Myeloid Leukemia Following Hematopoietic Cell Transplantation Using Error-Corrected Hybrid-Capture Next-Generation Sequencing V. Balagopal H040. Characterization of a Cryptic PML/RARA Fusion by Next-Generation Sequencing in a Newly Diagnosed Case of Acute Promyelocytic Leukemia with Normal FISH and Chromosome Studies M.J. Schultz H041. Development and Characterization an NGS Myeloid Panel: A Single-Tube, Multiplex-PCR-Based NGS Assay with 739 Tiled Amplicons N.J. Lodato H042. Antigen Receptor Stereotypy in Chronic Lymphocytic Leukemia F. Jelloul H043. Utility and Validation of a Comprehensive DNA Panel (523 Genes-TruSight Oncology 500) for Determination of SNVs, Indels, CNVs, TMB, and MSI on an NGS for Hematological

Page 8: Poster Listing Even numbered posters will be attended by

Malignancies R. Kolhe H044. Copy Number Variant Detection by Targeted Gene Next-Generation Sequencing C.E. Myers H045. Clinical Utility of Chromosome Genomic Array Testing in Assessing TP53 Abnormalities in CLL M. Fang H046. Rapid Detection of TP53 Mutations in Hematopoietic Neoplasms X. Xu H047. Exploring Whole Exome Sequencing Data for Predisposing Germline Variants in Pediatric Myeloid Neoplasia C. Soderquist H048. Monitoring Haematopoietic Stem Cell Transplant Using Whole Blood and Lineage-Specific Chimerism O. Shetty INFECTIOUS DISEASES ID001. Evaluation of the ELITechGroup MGB Alert CRE RUO Kit on the ELITe InGenius at the Indiana State Department of Health C. Campion ID002. Validation and Utility of HIV Drug Resistance Mutation (DRM) Analysis by NGS Platform R. Kolhe ID003. Microbial Cell-Free DNA Sequencing for Multiplexed Detection and Quantitation of Cytomegalovirus, Epstein-Barr Virus, and BK Virus T.A. Blauwkamp ID004. Next-Generation Sequencing-Based Approach to Detect Integration of HPV16 Following Exposure to Chronic Oxidative Stress Y. Chen Wongworawat ID005. Can Real-Time PCR Help in Diagnosis of Neglected Tropical Diseases? V. Gupta ID006. Development and Evaluation of a Novel, Sample-to-Answer Molecular Assay for the Detection of Pneumocystis jirovecii from Bronchoalveolar Lavage Fluid B. Liu ID007. Performance of Aptima HIV Quant Assay on Hologic Panther B.G. Baltagjieva ID008. Developing a Clinical 16s rRNA Multi-amplicon-Based Metagenomic Sequencing Test for Bacterial Pathogen Detection in Body Fluid and Tissue Specimens S. Realegeno ID009. Performance Verification of the COBAS HEV Nucleic Acid Test on the COBAS 6800

Page 9: Poster Listing Even numbered posters will be attended by

Platform for Hepatitis E Virus Screening C. Chai ID010. Diagnostic Stewardship: Framework for Development of Best Practices Algorithm for Hepatitis C Testing M. Andrade ID011. Performance of Aptima M. genitalium IVD Assay on Hologic Panther L.J. Mazur ID012. Institutional Positivity Rates and Implications for the Treatment of Group A Streptococcus Pharyngitis with Conventional versus Molecular Alere i Strep A2 Nucleic Acid Amplification Testing E.C. Calvaresi ID013. Analytical Performance and Estimated Clinical Outcomes of a Molecular Multiplexed Bacterial Identification Blood Culture Panel S.L. Mitchell ID014. Evaluation of GeneXpert MTB/RIF Assay for Rapid Diagnosis of Extrapulmonary Tuberculosis in a Low-Prevalence Setting P.M. Thwe ID015. Quantification of Viral Load in AcroMetrix HPV 16, 18, and 68 Genotype Controls Using Bio-Rad Droplet Digital PCR System H. Wang ID016. Validation of Altona Real-Star Analyte-Specific Reagents for the Quantitative Detection of Epstein-Barr Virus and Human Herpesvirus 6 in Cerebrospinal Fluid G. Patricia ID017. Clinical Evaluation of a Robust Custom-Designed Multiplexed qPCR Microarray-Based Assay for Urinary Tract Infection M. Shanmugam ID018. Cell-Free RNA Is More Sensitive Than DNA for the Detection of Pediatric Bacterial Sepsis via Shotgun Metagenomic Sequencing C.E. Dougherty ID019. Mycoplasma genitalium Assay Results from High- and Low-Risk Populations: Implications for Sexually Transmitted Infection Panel Menu M. Andrade ID020. Clinical and Histologic Features of Patients Tested Using the BioFire FilmArray Gastrointestinal Panel J.C. Mowers ID021. High-Throughput, Cost-Effective Screening for Multi-drug Resistance Markers and Toxigenic C. difficile with ChromaCode's HDPCR Multi-drug Resistance Panel RUO S. Powell ID022. Performance Validation of PCR/Sequencing Assays for Upper Respiratory Pathogens A. Pham ID023. Performance Characterization of a Respiratory Pathogen Panel with an Automated High-Throughput System C. Knoth

Page 10: Poster Listing Even numbered posters will be attended by

ID024. Clinical Assessment of the Applied BioCode Respiratory Pathogen Panel X. Zhang ID025. Arbovirus Surveillance in a Private Brazilian Hospital: A Four-Year Retrospective Study R. Petroni ID026. Validation of the QuanDx MeltPro High Risk and Low Risk HPV Genotyping Assays in FFPE Tissue L.M. Petersen ID027. Increased Prevalence of Vabomere and Plazomicin Resistance among Carbapenem-Resistant Enterobacteriaceae from a Cancer Center X. Zhang ID028. Development of a Multiplex Qualitative Real-Time PCR Panel for Identification of Tick-Borne Pathogens from Whole Blood L.M. Petersen ID029. Profiling of Microbe Co-existence in Respiratory Tract Infections J. Li ID030. Detection and Monitoring of Adenovirus Infection in Post-HSCT Recipients by PCR with Patient Outcomes R. Walia ID031. Performance Evaluation of the Comprehensive Respiratory Tract Microbiota (RTM) Panel Using Clinical Repository Specimen and QCMD Controls K. Li ID032. Performance of a Rapid Multiplex Strep Assay on the Fully Automated NeuMoDx Molecular Systems B. Keusch ID033. A Novel Highly Sensitive Assay for Quantitative Detection of Human Immunodeficiency Virus-1 in Human Plasma H. Lee ID034. Performance Characteristics of a Fully Automated High-Throughput MDx Assay for the Detection of Bordetella pertussis and Bordetella parapertussis B. Eaton ID035. Development of Synthetic Multiplexed External Controls for Monitoring the Performance of Qualitative Laboratory Nucleic Acid Testing Panels Used for Identification of Lower Respiratory Pathogens T. Spenlinhauer ID036. Evaluation of an Automated Coronavirus Assay to Supplement Respiratory Pathogen Panel Testing on Board the Panther Fusion System using the Open Access Functionality J.H. Moberly ID037. Verification of the Roche COBAS HIV-1, HCV and HBV Tests on the COBAS 6800 System and Correlation to the COBAS Ampliprep/COBAS TaqMan System M. Sabato

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ID038. Comparative Yield of Culture and a Molecular Panel in the Diagnosis of Meningitis at a Tertiary Care Cancer Center T. McMillen ID039. Sensitive Hybridization Capture and Detection of Urine Cell-Free DNA for Tuberculosis Diagnosis A. Oreskovic ID040. Direct Detection of Bacterial and Fungal Pathogens Using Next-Generation Sequencing of Lower Respiratory Specimens L.A. Cooper ID041. Local Foodborne Disease and Outbreak Detection for Salmonella javiana and Salmonella newport Patient Samples in South Carolina Using Whole Genome Sequencing: Details of 192 Salmonella Cases L.M. Lane ID042. WITHDRAWN ID043. Investigation of Amplicon Sequencing Technology in Diagnosis of Drug-Resistant Tuberculosis by Testing FFPE Specimens N. Che INFORMATICS I001. Development and Validation of a Melanoma Genomic Index (MGI) Focused on CNVs and AOH from Whole-Genome SNP Aiding in Histological Assessments Complex Melanocytic Lesions V. Agarwal I002. Validation and Adoption of Somatic Gene-Level CNV Detection from Tumor-Only NGS Panels Identifies Clinically Significant Alterations in Childhood Tumors R. Chandramohan I003. Evaluation of Tertiary Analysis Software for Solid Tumor Next-Generation Sequencing T.R. Sundin I004. Impact of Next-Generation Sequencing Panel Composition on Tumor Mutation Burden Calculation: In Silico Comparison of Frequently Utilized Panels N. Bevins I005. Evaluation of the NAVIFY Mutation Profiler for Next-Generation Sequencing Variant Interpretation and Reporting L. Bonomi I006. Performance Analysis of Three Bioinformatic Variant Callers Using a Somatic Reference Standard B. Porath I007. Tracking of Index Hopping Percent as a Quality Control Metric for Illumina Sequencers with Patterned Flow Cell Technology Y. Sakai I008. WITHDRAWN

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I009. Amplicon-Based Targeted Sequencing of Single Circulating Tumor Cells N. Ericson I010. Using RNA Expression Analysis to Find Non-fusion Translocations J.R. Gagan I011. Discovering SNVs and Indels from RNA-Seq: Comparison of Results of Whole Transcriptome Sequencing to Those of Whole Genome Sequencing J. Lee I012. Integrated Networks Dissect the Molecular Biology of Estrogen Receptor-Positive Breast Cancers I. Katsyv I013. Benchmarks for Difficult-to-Sequence Genes and Structural Variants J.M. Zook I014. Variant Detection and Tumor Mutational Burden (TMB) Concordance in Blood and Tumor Tissue Using Next-Generation Sequencing (NGS) in Patients with Non-small Cell Lung Cancer (NSCLC) J. Baden I015. Curation of Pediatric Cancer Variants within the Clinical Genome Resource (ClinGen) A. Roy I016. Large-Scale Cytogenetic Profiling of Acute Myeloid Leukemia (AML) from the Mitelman Database Using CytoGenetic Pattern Sleuth (CytoGPS) Z.B. Abrams I017. Improve PPV without Sacrificing Sensitivity for Germline NGS Tests Using Lithium Software Package L. Yang I018. Oncogenic EGFR Kinase Domain Duplications Detected through Aberrant Splice Recognition in RNA-Seq A. Garcia I019. Assessment of SureSeq Interpret Software on Low-Frequency Variants Using Reference Standards J. Reid I020. Mixed Reality for a Precision Medicine Laboratory: The Future Is Now! A. Sigaras I021. Datanorm: A User Friendly Tool That Assists in the Validation of Next-Generation Sequencing Assays V.S. Williamson I022. Validation of a Novel Tumor Mutation Burden Assay Using a 130 Gene Tumor Only Targeted Sequencing Panel Covering Less Than 0.25 Megabases R.P. Joshi

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I023. Genomic Database for Assessing Specificity of Primers with Mismatches and Single-Base Bulges Z.L. Dwight I024. A Deep-Learning Method for High-Throughput FMR1 Triplet Repeat Screening L. Ringel I025. Ultra-rapid and Accurate Data Analysis Solution for TSO500 ctDNA: Enabling Comprehensive Genomic Profiling with a Plasma-Based Assay T. Jiang I026. Targeted Informatics for Optimal FLT3-ITD Detection, Characterization, and Quantification across Multiple NGS Platforms H. Tsai I027. Identification of Low-Frequency Variants in AML Populations S. Johnson I028. Development of a Convolutional Neural Network Algorithm for Detection of Copy Number Loss in Exome Sequencing Data S. Muthusamy I029. InferCNV.org: Inferring Regional Copy Number Changes from Discrete Gene-Level Amplification Signals in Clinical Cancer Genomics Reports for Prioritization of Therapeutic Targets P.A. Kenny I030. Pratical Informatic Solutions for Molecular Diagnostics Quality Management L.M. Scicchitano I031. Platform-Agnostic Deployment of Bioinformatics Pipelines for Clinical NGS Assays Using Containers, Infrastructure Orchestration, and Workflow Manager S. Kadri I032. Evaluation of Nanopore Sequencing and Associated Bioinformatics Pipelines for Accurate Pathogen Identification and Antimicrobial Resistance Prediction L.M. Petersen I033. A Next-Generation Sequencing-Based Analysis of Clonality across 39 Subjects Treated for Lymphoproliferative Disorders Reveals Matching Clones in the Diverse IGH Locus A.M. Zlotnicki I034. Detection of Internal Tandem Duplications in the FLT3 Gene Using PiVAT Software S.M. Polvino I035. Clinical Bioinformatics Pipelines in the Cloud: Considerations and Deployment S. Kadri I036. High-Throughput Genetic Variant Classification for Inherited Cancer Gene Panels through an Artificial Intelligence Inference Engine S. Nohzadeh-Malakshah I037. Clinical Validation and Informatic Implementation of Targeted NGS for Low-Input and Degraded Specimens A. Chitturi

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I038. Calculation of Tumor Mutational Burden (TMB) Using a Small, Targeted Next-Generation Sequencing (NGS) Panel for Solid Tumor Samples Absent Matched Normal Samples P.D. Velu I039. Downstream Third-Party NGS Pipelines in Comparison to In-House Semi-Automated Variant Processing May Demonstrate Limitations on Some Platforms K. Ikemura I040. Machine Learning Applications for Patient Testing: Computational Assessment of MSI by NGS in the Clinical Laboratory G. Omerza Other (e.g., Education) OTH001. HLA Typing: Do We Need Secondary Typing Methods in the Era of NGS? L. Kumer OTH002. Alignment of Fellowship Training and Job Needs in Molecular Genetic Pathology K.L. Kaul OTH003. Development of Tumor-Specific NGS Gene Subpanels Based on a Medium-Sized NGS Panel (TST170) in a Small Hospital-Based Molecular Diagnostics Laboratory K.C. Behling OTH004. Single Cell Genomics and Spatial Transcriptomics Enable Novel Approaches to Dissect Tumor Heterogeneity L.D. Gibbs OTH005. Reporting Indeterminate Variants from Massively Parallel Sequencing Assays J.J. Roth OTH006. Standardized Process for Molecular Laboratory Engagement and Quality Improvement K. Halverson OTH007. Laboratory Standards for Interpretation and Reporting of Acquired Copy Number Abnormalities and Copy-Neutral Loss of Heterozygosity in Neoplastic Disorders: A Consensus ACMG/CGC Document G. Raca OTH008. Real-Time Outbreak Investigation Informed by Whole Genome Sequencing and Data Mining: Expecting the Unexpected M.M. Hernandez OTH009. Whole Exome Sequencing in the Clinical Laboratory: Pre-analytical Challenges and Triumphs J. Catalano OTH010. Large Panel NGS Testing: Financial Barriers to Entry J. Catalano OTH011. Analysis of CAP Proficiency Testing Responses and Commonly Used Annotation Software Output Shows Substantial Discrepancy in Variant Nomenclature R.J. Schmidt

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SOLID TUMORS ST001. Comparison of Next-Generation Sequencing Assays for Clinical Use in Solid Tumor Malignancies T. Sundin ST002. Development of a DNA/RNA Full Process Run Control for Next-Generation Sequencing Assays A.E. Shean ST003. Relevance of Next-Generation Sequencing in Lung Cancer: Data from a Tertiary Lab with Interesting Case Presentations N. Sabnis ST004. Quality Impact of Implementing Reflex Clinical Genomic Analysis in Non-Small Cell Lung Cancer B.F. Smith ST005. Correlation of MET Exon 14 Skipping and TP53 Mutation with PD-L1 Expression in Chinese Patients with NSCLC N. Che ST006. WITHDRAWN ST007. Molecular Profiles of Lung Adenocarcinoma (LAC) from Rural Maine: Correlation of Next-Generation Sequencing (NGS) Data with Clinical Features and Outcome L. Skacel ST008. Diverse Landscape of Fibroblast Growth Factor Receptor 2 (FGFR2) Rearrangement Partners in Intrahepatic Cholangiocarcinoma (iCCA) I.M. Silverman ST009. Improved Detection of MET Exon 14 Skipping Mutations in Lung Adenocarcinoma with Combined DNA/RNA Testing and Refined Analysis Methods D.M. Manthei ST010. Detection of Point Mutations in Paediatric Low Grade Glioma (PLGG) and Diffuse Intrinsic Pontine Glioma (DIPG) Patients: Validation of a Novel Liquid Biopsy Assay M. Johnson ST011. Microsatellite Instability Testing Using the Moffitt STAR Next-Generation Sequencing Panel J.M. Rodriguez ST012. Implementation and Analysis of Colorectal Cancer NGS Panel at a Brazilian Low Income Cancer Hospital G.N. Berardinelli ST013. Cell-Free Plasma miR-149 as a Biomarker for Screening Lung Cancer W. Mahmud ST014. CFL1 Promotes Proliferation and Invasiveness and Regulates NF-κB-Mediated Inflammatory Factors in Hepatocellular Carcinoma C. Zhang

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ST015. Clonal Hematopoiesis Mutations in Plasma cfDNA RAS/BRAF Genotyping of Metastatic Colorectal Cancer B. Wang ST016. Utility of NGS MSI Calling Software in a 0.35 Mb Targeted Panel Utilizing Amplicon-Based Target Enrichment on an Ion Torrent Platform C.M. Sebastian ST017. Correlative Analysis Genes Encoding Cholesterol Synthesis with Tumor Character and Clinical Parameters in Colorectal Carcinomas K. Vaiphei ST018. Accurate Classification of Salivary Gland Carcinomas Using a Custom AmpliSeq RNAseq Panel D.M. Manthei ST019. IDH Mutations, MGMT Methylation and 1p/19q Status Provides Better Diagnosis and Survival Prediction in an Indian Cohort of Diffuse Gliomas A. Majumdar ST020. Characterization and Prevalence of a 3-Gene Biomarker Signature (PIK3CA, AKT1 and PTEN) for Selecting Breast Cancer (BC) Patients (Pts) for Treatment with the Oral AKT Inhibitor Ipatasertib (IPAT) M. Wongchenko ST021. Analytical Validation and Clinical Utility of a Custom 34-Gene Next-Generation Sequencing Fusion Panel for Bone and Soft Tissue Neoplasms J.K. Dermawan ST022. TP53 Mutations Affecting Nuclear Localization Do Not Exhibit Classical Aberrant Patterns of p53 Immunoexpression: A Potential Diagnostic Pitfall for Gynecological High Grade Serous Carcinoma W. P. Devine ST023. Impact of Universal Screening and Immunotherapy Eligibility on Microsatellite Instability Testing N. Singh ST024. Evaluation of a Screening Tool to Detect Clinically Actionable DNA Variants in Lung Cancer Patients F. Mularo ST025. Systematic Re-examination of Pathological Diagnosis after Panel Sequencing for Clinically Suspected Non-Small Cell Lung Carcinoma Y. Lo ST026. The Presence of an FGFR2-INA Fusion Could Represent a New Category of Low Grade Mixed Neuronal-Glial Tumors C.M. Sande ST027. An Automated Companion Diagnostic (CDx) IHC Assay for Detection of PTEN Loss in Metastatic Castration-Resistant Prostatic Cancer (mCRPC) Compares to DNA-Based Detection Methods E. Harnish

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ST028. Validation and Implementation of Ultra-rapid Mutation and MSI Assessment Using the Idylla Platform K. Nafa ST029. Impact of Dicer1 Mutations on microRNA Expression Profiles in Ovarian Sertoli-Leydig Cell Tumors: Analysis of a Southeast Asian Cohort Y. Mok ST030. Pitfalls of RET Translocation Analysis In Non-Small Cell Lung Cancer Using In Situ Hybridization W. Geurts-Giele ST031. digitalMLPA for Detection of BRCA1- and BRCA2-Like Copy Number Profiles in Breast Cancer A. Benard-Slagter ST032. Prospective Multi-dimensional Genomic Testing in Newly Diagnosed Glioblastoma Facilitates Trial Analysis and Biomarker Discovery A. Dubuc ST033. Quality Assurance of Neoplastic Cellularity Estimation: Comparing Intradepartmental and Intraobserver Scores with the CAP Neoplastic Cellularity Proficiency Testing T.E. Jones ST034. RET M918T Mutations in Breast Cancer M. Eldomery ST035. RT-PCR and Sanger Sequencing as the Standardized Confirmatory Methods for Gene Fusion Detection in RNA-seq NGS Testing W. Song ST036. Clinical Utility of Oncomine Next-Generation Sequencing Test for Calculation of Tumor Mutation Burden C. Kaya ST037. Design and Clinical Validation of a 100-Gene DNA-Based Next-Generation Sequencing Panel for Solid Tumors L. Mnayer ST038. Clinical Utility of Oncomine Next-Generation Sequencing Test for Identification of Tier 1 and Tier 2 Alterations A.I. Wald ST039. Value of Comprehensive Clinical Molecular Testing in Pediatric Malignancies: Single Center Experience N.S. Kataria ST040. Design and Validation of an RNA-Based Fusion Panel for Solid Tumors L. Mnaye ST041. Patterns of Common Genomic Alterations in Colorectal Cancer: A Tertiary Cancer Centre Experience on Western Indian Patients O. Shetty

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ST042. Mutations in DNA Repair (DR) Genes: Another Indicator of High Tumor Mutation Burden (TMB) R.K. Yang ST043. Grid Study: A Simulated Sampling Study to Assess the Equivalency of Tumor Resections and Biopsy Specimens of Gastric or GEJ Adenocarcinoma Tissues Y. Lin ST044. Concurrent Cross-Platform Comparison of an NGS LDT and an FDA-Approved Companion Diagnostic for Detecting EGFR Mutations in Lung Adenocarcinoma Reveals Unanticipated Discrepancies J.B. Murry ST045. Validation of the BioCartis Idylla Platform Using Extracted Nucleic Acid as Input K.D. Davies ST046. Clinical Implications of Improved Variant Detection Using In-House Developed Bioinformatic Workflow Compared to Vendor Provided Bioinformatic Solution N. Kip ST047. Optimized Conditions for Whole Blood Analysis in the AVENIO Analysis Kits Enable Filtering of Clonal Hematopoetic Variants in ctDNA Analysis S. Saelee ST048. Monitoring Breast Cancer Biomarkers from Circulating Tumor DNA Using Target Selector NGS Breast Panel R.D. Schultz ST049. Validation of Target Selector Next-Generation Sequencing Lung Panel for the Detection of Circulating Tumor DNA Alterations R.D. Schultz ST050. WITHDRAWN ST051. Implementation of a Patient-Centric Protocol for the Comprehensive Genomic Profiling of Pediatric Tumors and Hematologic Disease C.E. Cottrell ST052. Highly Sensitive and Specific Detection of a Cytokeratin Positive and Negative Circulating Tumor Cells J.A. Mayer ST053. Detection of Potential Epithelial Mesenchymal Transition Cells in Localized Prostate Cancer J.A. Mayer ST054. Differential Network Analysis Identifies Differences in Tumor Immune Response between Colon and Rectal Adenocarcinomas D. Chen ST055. Validation of Extracted DNA for Detection of KRAS Mutations with Idylla PCR-Based Molecular Diagnostic Aassay: Can We Rescue Small Samples? Q. Wei ST056. Clinical Correlates of Circulating Tumor DNA Shed in BRAF V600+ Melanoma Patients:

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Defining a High-Yield Cohort for Cell-Free Validation Studies J.M. Tsai ST057. Development of Novel Copy Number Variation (CNV) Reference Materials for Solid and Liquid Biopsy Next-Generation Sequencing Assays K. Banjara ST058. Reflex Testing Using a Targeted Fusion Panel for Optimal Patient Management H. Fernandes ST059. Evaluation of a Targeted Realtime Assay for Rapid Identification of IDH1 and IDH2 Disease-Associated Variants in Brain Tumors S.E. Herlihy ST060. Performance of a Targeted RNA Sequencing Panel in the Detection of Gene Fusions in Solid and Hematologic Tumors L. Sun ST061. Assessment of Tumor Mutational Burden Using a Rapid, Amplicon-Based NGS Target Enrichment Strategy for Accurate and Comprehensive Tumor Profiling L. Lee ST062. Development and Validation of a Pan-solid Tumor Next-Generation Sequencing Panel with a Customized Bioinformatics Pipeline L. Yin ST063. Analytical Performance of a Novel Microsatellite Instability Digital Droplet PCR Assay Z. Iemier ST064. Identification of Gene Fusions and Single Nucleotide Variants by a Custom-Designed Next-Generation Sequencing-Based Panel Improved Diagnostic Accuracy for Salivary Gland Tumors C.M. Sande ST065. Application of a Staged Testing Model for cfDNA Samples from a Series of 100 NSCLC Patients at Time of Diagnostic or Progressing on EGFR Tyrosine Kinase Inhibitor Therapy A. Sartori ST066. Mutational Landscape of Gastrointestinal Stromal Tumors: An Indian Perspective O. Shetty ST067. Association of Mutational Profile and Human Papillomavirus Status in Patients with Head and Neck Squamous Cell Carcinoma S. Doerstling ST068. Molecular Genetic Profiling Reveals Prognostic Markers of Survival and Recurrence in Glioma K. Shee ST069. WITHDRAWN ST070. RNA-seq Analysis Reveals Differences in Tumor Mutation Burden between Lynch Syndrome Associated Tumors and Tumors with Defective DNA Mismatch Repair Due to MLH1 Promoter Hypermethylation M.J. DiGuardo

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ST071. Analytical Validation of Tumor Mutation Burden Using a Targeted NGS Panel Compared to Whole Exome Sequencing L. Keefer ST072. From One Case to See the Role of Molecular Testing in Colorectal Cancer Screening J. Shi ST073. The Development of a Highly Multiplexed FFPE Reference Standard for Somatic Cancer Panels P. Nagarajan ST074. Accurate Detection of MET Exon 14 Skipping Mutations in Non-small Cell Lung Cancer with DNA-Based NGS Analysis W.R. Geurts-Giele ST075. Utility of Salvaged CytoLyt-Fixed FNA Supernatant for Next-Generation Sequencing Using AmpliSeq Cancer Hotspot Panel and Oncomine Comprehensive Assay: An institutional Experience A. Waluszko ST076. Droplet Digital PCR as a Rapid Test for NRAS Q61R in FFPE Biopsies of Melanoma E.G. Hughes ST077. Impact of Immunohistochemistry Chromogen on Microdissection and Downstream Molecular Analysis of Archival Specimens S. Laun ST078. MLH1 Promoter Methylation Analysis L. Cai ST079. Correlation of PD-L1 SP142 Immune Cell Positivity with Tumor Mutational Burden and Microsatellite Instability in Triple Negative Breast Cancer C.A. Brown ST080. Reduction of Unsatisfactory Molecular Test Results on Cytology Specimens: Process Improvement F.K. Bruehl ST081. Frequency of Biomarker Testing In Lung Cancer: A Study from an Academic Hospital T. Zhang ST082. Validation of the TruSight Oncology 500 Gene Assay for High-Throughput Deployment on the NovaSeq 6000 Sequencer J.T. Welle ST083. Clinical Validation of a Digital Droplet PCR Assay for Detecting Microsatellite Instability in Tumor and Plasma cfDNA Samples M. Freed ST084. Characterization of Tumor-Normal Cell Line Pairs for TMB Standardization M. Butler

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ST085. False Retained Mismatch Repair Protein Expression in Microsatellite Instability-High Cancers Is Associated with Missense Mutations in Mismatch Repair Genes S. Rana ST086. Comparative Analysis of Immunohistochemistry and Fluorescence In Situ Hybridization Assays to Establish Reporting Criteria for ALK and ROS1 Immunohistochemical Stains for Lung Adenocarcinomas D. Sirohi ST087. Detection of Genomic Structural Variation in Primary and Metastatic Ovarian Cancer Using a Novel Genome Wide High-Resolution Optical Mapping Approach S. Bocklandt ST088. WITHDRAWN ST089. Fusion Gene Detection in Cell-Free Plasma by NanoString Low Input Fusion Assay C. Huang ST090. Assessment of the Oncomine Cell-Free DNA Lung Assay to Detect Low-Frequency Hotspot Mutations in Plasma from Cancer Patients H. Rennert ST091. Development of a Comprehensive Next-Generation Sequencing Assay for Gene-Fusions Detection in Solid Tumors V. Mittal ST092. MLH1 Promoter Hypermethylation in Circulating Cell-Free DNA from Patients with Colorectal Cancers Showing High Microsatellite Instability P. Ward ST093. Pick-Seq: A Novel Technology to Retrieve Image-Defined Micro-regions for RNA Sequencing R. Podyminogin ST094. STK11 Loss-of-Function Variants Mediate Immune Evasion in NSCLC via Dysregulation of the FAK/Hippo Signaling Axis and Subsequent Alterations in Tumor-Intrinsic Cytokine Expression L.L. Donnelly ST095. Tumor Mutation Burden Assessment Comparison between Whole Exome Sequencing and Target Panel Sequencing W. Song ST096. Differences in Clonality of Tumor Infiltrating Lymphocytes in Colorectal Cancers with High-Microsatellite Instability Due to Lynch Syndrome versus MLH1 Promoter Methylation P. Ward ST097. Enzymatic DNA Repair Enables High-Quality Library Preparation and Accurate Sequencing from Highly Damaged FFPE DNA Inputs M.R. Heider ST098. Variance in Tumor Mutation Burden between Primary and Metastatic Lesions C.A. Pagan ST099. A Multi-laboratory Investigation of 18 Oncogenic RNA Fusions in FFPE and Purified RNA-Based Reference Materials D.J. Ruminski Lowe

Page 22: Poster Listing Even numbered posters will be attended by

ST100. Evaluation of Anchored Multiplex-Based Next-Generation Sequencing for Detecting Clinically Significant Variants in Liquid Biopsy Samples from Pediatric Solid Tumor Patients J.N. Reuther ST101. Analytical Validation of Tumor Mutational Burden and Microsatellite Instability in a Plasma-Based Targeted Sequencing Panel Y. Fu ST102. Evaluation of the Performance of the Biocartis Idylla BRAF Cartridge with Low DNA Input A. Judd ST103. Correlation between Mutations Found in FFPE Tumor Tissue and Paired CfDNA Samples L. Saunders ST104. TGFB1 Pathway Activation Predicts Early Relapse in EGFR-Sensitive NSCLC Patients Treated with EGFR TKIs G. Khullar ST105. Clinical Validation of ctDNA Liquid Biopsies in Resected Pancreatic Cancer S.L. Riel ST106. Oncogenic Fusion Detection Using RNA-seq in a Cohort of 158 Sarcomas M.A. Atiq ST107. Development of a Targeted NGS Oncology Assay for Detection and Reporting Comprehensive Genomic Profiling V.K. Mittal ST108. Comparison of MSK-IMPACT Results Generated on 2 Sequencing Platforms: HiSeq2500 and NovaSeq6000 R. Bacares ST109. Analytical Performance of TSO500 ctDNA on Small Nucleotide Variations, Gene Amplifications and Gene Rearrangements Using Circulating Tumor DNA Extracted from the Plasma of Cancer Patients J.S. LoCoco ST110. Identification of Chromothripsis in a Lipoblastoma with a Complex PLAG1 Rearrangement J. Lanceta ST111. Development of an Expanded Microsatellite Instability Panel with Automated Data Analysis C. Baudo ST112. Clinical Utilization of a 50-Gene Next-Generation Sequencing Panel in Colorectal Cancer J. Xu ST113. Rapid, High-plex, Amplification-Free Direct RNA Expression Profiling from FFPE Tissue Using Hyb & Seq Counting Mode P.M. Ross ST114. Integration of Data from Orthogonal Testing for Continuous Quality Assessment of a Somatic Cancer Gene Panel A.M. Eckel

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ST115. Therapeutically Targetable Gene Fusions Are Enriched in a Subset of Microsatellite Unstable Colorectal Cancer C.A. Brown ST116. Utility of Biomarkers to Differentiate Adenocarcinoma of the Uterine Cervix from Its Mimics G.J. Nuovo ST117. Utility of Whole Genome Single Nucleotide Polymorphism Microarray (SNPM) and Targeted Somatic Mutations in Evaluation of Pancreatic and Bile Duct Brushings with Atypical Cytology S. Heneidi ST118. A Quality Management System for Clinical Next-Generation Sequencing D.H. Barakat ST119. The DNA Damage Repair Pathway Gene EXO5 Is Hypermethylated in Glioblastomas: Correlation with MGMT Hypermethylation, Genomic Alterations and Patient Outcome F. Khan ST120. Using DNA Methylation Signatures to Predict the Anatomic Origins of Primary Head and Neck Squamous Cell Carcinomas D. Xia ST121. Whole Exome and Transcriptome Sequencing of Pediatric Ependymomas: A Single Institution Experience M.L. Miller ST122. Evaluation of the Suitability of Cytology Fluid Samples for Molecular Testing in Lung Cancer A. Judd ST123. Development of SureSelect Sequencing Panels and Algorithms to Detect Copy Number Variations, DNA Rearrangement and Tumor Mutational Burden in FFPE Specimens A. Khare ST124. Highly Efficient Capture of Small (Sub-nucleosomal) ctDNA Fragments M.J. Lodes ST125. Segmental Involuting Congenital Hemangioma: An Unusual Case as Characterized by Pathogenic GNA11 Mutation T. Phung ST126. Analytical Performance of an Immunoprofiling Assay Based on RNA Models J.R. Armstrong ST127. Genetic Alterations in Genes in Adult Gliomas H. El Achi ST128. Correlation among Single Gene, NGS Panel and Clinical Management in Metastatic Colon Cancer Patients Y. Akkari ST129. WITHDRAWN ST130. Oropharyngeal Metastasis as the Initial Presentation of Lung Adenocarcinoma 12 Months Before the Primary Cancer A. Plagov

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ST131. A Partner Agnostic Approach for Gene Fusion Detection with Targeted Next-Generation Sequencing A. Marcovitz ST132. The Impact of Clinical Molecular Testing and Precision Medicine in Thyroid Cancer D. Dias-Santagata ST133. A Comparison of a 5-Gene Panel Using MALDI-TOF-Based Technology to Multiple Single-Gene Real-Time PCR Assays When Profiling FFPE Tissue Samples B. Boyadzhyan ST134. Genomic Characterization of Breast Cancer Heterogeneity Using Breast Cancer 360 H. Brauer ST135. Comparison of NGS-Based RNA Sequencing Assays for the Detection of Gene Fusions W. Song ST136. Biomarker Selection of Cancer Patients for Treatment with FGFR TKI S. Manjeshwar ST137. A Pathology Group Experience with Targeted Next-Generation Sequencing (NGS) for Non-Small Cell Lung Cancer (NSCLC) D. Xu ST138. A 15-Gene Panel for BRCA1, BRCA2 and DDR Genes for Reporting Variants on FFPE Samples F.L. Hyland ST139. Impact of Recent 2018 ASCO-CAP HER2 Testing Guidelines on 2713 Breast Cancer Cases Treated According to 2013 ASCO-CAP HER2 Guidelines: Western Indian Tertiary Cancer Centre Experience T. Pai TECHNICAL TOPICS TT001. Development of SNP-Matched NIPT Reference Materials for Validation, Proficiency Testing and Quality Control F.L. Tomson TT002. Blood Collection Tube Selection and Storage Time Impact the Quantity and Quality of Cell-Free Total Nucleic Acids H.E. Saunders TT003. FISH Slides Preparation by BioDot Instruments: A Semi-automated System W. Zhou TT004. The Application of Droplet Digital PCR for EGFR Mutation Testing in Formalin-Fixed, Paraffin-Embedded Tissues with Poor DNA Quality F. Wang TT005. Elevated BCR-ABL1 IS in Ph(+) ALL: Laboratory Error or Biological Phenomenon? N. Willard

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TT006. Analytical Validation of a Quantitative Intracellular Protein Signaling Panel for the Analysis of FFPE Breast Cancer Biopsies J. Lee TT007. Advanced Quality Control System for Clinical Metagenomic Sequencing Assays S. Siddhanti TT008. Comparative Study of Lower Limit of Detection of EGFRvIII Variant Detection Using Amplicon-Based NGS Testing and RT-PCR G. Shen TT009. WITHDRAWN TT010. Comparison of QIAact Myeloid DNA UMI Panel versus Traditional Methods for the Detection and Quantification of Myeloid Mutations R.A. Allen TT011. A Comprehensive Assessment of Onco-panel Sequencing across Multiple Laboratories and Technologies J. Xu TT012. FLT3 Variants Near Codon 835: An Institutional Experience Comparing Rapid Restriction Digest Testing with Massively Parallel Sequencing S. Garces TT013. EGFR Mutation Analysis: Performance Evaluation of Blood Collection Tubes for ccfDNA Stabilization A. Ullius TT014. Alternative Method of DNA Fragment Analysis for the Detection of CALR and FLT3-ITD Mutations E.S. Walker TT015. Concurrent Detection of Target Copy Number Variants and Gene Variants (SNV/Indels) in CLL Samples Using a Next-Generation Sequencing Panel L. Georgieva TT016. Utilization of Unique Molecular Barcodes in Next-Generation Sequencing Reveals Startling Differences in Library Chemistries in Read Depth and Allelic Frequencies B. Anderson TT017. Validation of a Novel Multiplex Assay for the Detection of 30 Fusion Genes in Leukemia Patients L. Hamadeh TT018. Liquid Handling Methods Impact Insert Size and Overall Mate Pair Library Quality E. Zimmerman Zuckerman TT019. A Method for Absolute Quantification of Tumor Markers and Viral Genomes by Massive Parallel Sequencing of Cell-Free DNA M.L. Gulley TT020. Comparison of Traditional and Repeat-Primed PCR for Clinical Testing of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 D. Kronemann

Page 26: Poster Listing Even numbered posters will be attended by

TT021. Comparison of Hemolysis in Circulating Cell-Free DNA Stabilization Tubes T. Hailemariam TT022. Low-Input Method for Cell-Free DNA Quality Assessment Improves Circulating Tumor DNA Next-Generation Sequencing Assay Performance A. Lovejoy TT023. Circulating Tumor DNA (ctDNA) Reference Materials for Commercial RT-PCR Assays F. Tomson. TT024. Experience at MSKCC with Several Clinical Assays for Multiplex and Single Variant Detection Using the Raindrop Picodroplet Digital PCR Technology on Clinical Samples U. Patel TT025. Evaluation and Comparison of Liquid Biopsy Reference Materials from Commercial Sources Using Oncomine Pan-Cancer Cell-Free Assay K. Lea TT026. Measuring Yield and Variation: Evaluation of Plasma Circulating Cell-Free DNA Extraction and Measurement Methods J.E. Till TT027. Amplified ccfDNA for Assay Development, Validation, and Proficiency Testing Y. Konigshofer TT028. Enhanced Performance of Targeted NGS Assays Using Single-Vial Amplification S. Barua TT029. Validation of the EGFR Uncommon Variants Multiplex ddPCR Assay for Blood-Based Testing in NSCLC J. Reese TT030. A Novel Approach for Identifying High Confidence Variants in Commercial Reference Materials P. Hakimpour TT031. Analytical Validation of BKN Panel with Integrated Molecular Barcoding to Identify Low-Frequency Variants C. Weller TT032. Improving the Reliability of Buccal Swab Germline Control Sampling with Rapid Cell Culture E. Degelman TT033. A Performance Evaluation of Microsatellite Instability and Mismatch Repair Testing in Endometrial Samples S.R. Lewis TT034. Pre-analytics Verification Studies for a Cell-Free DNA Collection Tube to Support Liquid Biopsy of NSCLC Patients Using Plasma-Based EGFR Molecular Testing J. Shabbeer

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TT035. Validation and Implementation of a Modular Targeted Capture Assay for the Detection of Clinically Significant Molecular Oncology Alterations A.J. Kuo TT036. Concordance Testing of Software to Automate Determination of Microsatellite Instability Status K. Oostdik TT037. Validation of a Custom Pediatric Cancer Fusion Sequencing Assay in Keeping with AMP/CAP Guidelines A.J. Church TT038. WITHDRAWN TT039. nRichDX Revolution Instrument and cfDNA Isolation Kit for Extraction of cfDNA from Large Plasma and Urine Sample Volumes Improves Yield of Rare Targets R.S. Creager TT040. Establishing the Sensitivity, Specificity, Interlaboratory Reproducibility, and Analytical Limit of Detection of the UltraSEEK Liquid Biopsy Application Using Well-Defined Seraseq Reference Materials D.J. Demetrick TT041. Evaluation of the Asuragen Amplidex PCR/CE HTT Kit: A User Laboratory Experience C.C. Eno TT042. A Versatile DNA Library Preparation Workflow for Multiple Applications M. Hong TT043. Precision and Robustness of the PAXgene Blood ccfDNA Workflow T. Krenz TT044. Assessment of the nRichDX Revolution Instrument and Isolation Kit for Cell-Free DNA Extraction from Liquid Biopsy E.G., Hughes TT045. Evaluation of a Cartridge-Based Assay to Assess Microsatellite Instability from FFPE Colorectal Cancer Tissues A.E. Mindiola-Romero TT046. Implementation of an Automated Illumina TruSight Tumor 170 Workflow with the Biomek NXP Span8 Liquid Handler S.j. Deharvengt TT047. Comparative Purification Methodologies and Synthetic Long-Read Sequencing for Fecal Microbiome Identification D. Wieczorek TT048. High-Throughput Semi-automated RNA Extraction from White Blood Cells Using the Hamilton STAR and Promega SimplyRNA D. Devine TT049. A Single-Platform Technology for Proteogenetic Biomarker Analysis in Oncology: Complementary Protein and RNA Quantification Relevant to Targeted and Immunotherapies in

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Non-small Cell Lung Cancer G.J. Latham TT050. Evaluation of Illumina TSO500 Performance in Clinically Significant Sample Types and Input Levels A. Beams TT051. Iso-Seq Resolves and Identifies Novel and Aberrant Gene Transcripts Resulting from Complex Genomic Alterations in a Patient-centric Cancer Protocol V. Magrini TT052. Highly Multiplexed, Sequencing-Based Genotyping in Human Samples Can Discriminate Sample Identity S. Bowman TT053. A Comparison of Commercial Extraction Kits for the Isolation of Total RNA from FFPE for RNA-Seq NGS Testing W. Song TT054. Comparing DNA Extraction Methods for the LymphoTrack IVD TRG Assay M. Kaminsky TT055. Digital Methylation-Specific Multiplex Ligation-Dependent Probe Amplification: A Novel MLPA-Based Technique for Assessing Promoter Methylation Status in Cancer J. Smout TT056. Development and Validation of a Next-Generation Sequencing Assay to Evaluate T-Cell Diversity in a CAP-Accredited, CLIA-Certified laboratory J.B. Williamson TT057. Evaluation of an Alternative Fragmentation Method in High-Throughput NGS Sample Testing of Minimal Residual Disease in Hematological Malignancies Y. Huang TT058. A Novel Approach to Next-Generation Sequencing-Based Assessment of T-cell Clonality D.A. Oldridge TT059. Mutation Profiling by Next-Generation Sequencing in Low-Yield DNA Intraocular Liquid Biopsies: A Case Series J. Hirschhorn TT060. Development and Integration of Clarity LIMS in a Clinical Molecular Laboratory C. Burnes TT061. WITHDRAWN TT062. Optimization of Library Preparation for NGS: Memorial Healthcare System Archer VariantPlex Solid Tumor Implementation. B.E. Montoya TT063. LabChip GX Touch microfluidics technology to assess RNA quality for the Illumina TruSight Tumor 170 Assay S.J. Deharvengt TT064. Proteomic Analysis from Whole Blood Collected in LBgard Blood Tubes J.M. Vasquez

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TT065. WITHDRAWN TT066. Variants Reported by Tumor-Only Clinical Oncology NGS Testing Are Frequently Found in the Germline of Pediatric Patients A. Saeed TT067. Improving Quantification of DNA in the Presence of Both Double- and Single-Stranded Forms F. Ye TT068. Assessment of Pooled Plasma as Reference Material for Quality Assurance of ctDNA Assays J. Doshi TT069. Analytical Performance of TruSight Oncology 500: Detection of Small Nucleotide Variants, Gene Amplifications, Fusions and Splice Variants from Highly Multiplexed Libraries Sequenced on the NovaSeq D.M. Chou TT070. Polymerase Chain Reaction Directly from Whole Blood and Dry Blood Spots after NaOH Treatment F. Ye TT071. EXaCT-2: Augmented Whole Exome Sequencing Optimized for Clinical Testing in Oncology D.C. Hassane TT072. Dissimilarity Score (DisScore): Identifying Potential Discordance between Anatomic Pathology and Mutation Landscape in the Evaluation of Clinical Sequencing as Part of a Molecular Tumor Board G.T. Gurda